16-262171-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032039.4(FAM234A):c.787G>C(p.Gly263Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,613,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032039.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM234A | NM_032039.4 | c.787G>C | p.Gly263Arg | missense_variant | 7/13 | ENST00000399932.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM234A | ENST00000399932.8 | c.787G>C | p.Gly263Arg | missense_variant | 7/13 | 1 | NM_032039.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000601 AC: 15AN: 249404Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135340
GnomAD4 exome AF: 0.000115 AC: 168AN: 1461678Hom.: 0 Cov.: 32 AF XY: 0.000109 AC XY: 79AN XY: 727154
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2022 | The c.787G>C (p.G263R) alteration is located in exon 7 (coding exon 5) of the FAM234A gene. This alteration results from a G to C substitution at nucleotide position 787, causing the glycine (G) at amino acid position 263 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at